Sequence information
Variant position: 905 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2005 The length of the canonical sequence.
Location on the sequence:
TLVLAIIVFIFAVVGMQLFG
K SYKECVCKISNDCELPRWHM
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TLVLAIIVFIFAVVGMQLFGK SYKECVCKISNDCELPRWHM
Mouse TLVLAIIVFIFAVVGMQLFGK SYKECVCKISNDCELPRWHM
Rat TLVLAIIVFIFAVVGMQLFGK SYKECVCKISNDCELPRWHM
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
Chain
1 – 2005
Sodium channel protein type 2 subunit alpha
Topological domain
899 – 927
Extracellular
Repeat
741 – 1013
II
Site
909 – 909
Binds SCN2B; via carbonyl oxygen
Site
916 – 916
Binds Mu-conotoxin KIIIA; via amide nitrogen
Site
920 – 920
Binds Mu-conotoxin KIIIA; via carbonyl oxygen
Disulfide bond
910 – 910
Interchain; with SCN2B or SCN4B
Disulfide bond
910 – 910
Interchain; with the conotoxin GVIIJ (when the channel is not linked to SCN2B or SCN4B; the bond to SCN2B or SCN4B protects the channel from the inhibition by toxin)
Helix
904 – 909
Literature citations
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
Carvill G.L.; Heavin S.B.; Yendle S.C.; McMahon J.M.; O'Roak B.J.; Cook J.; Khan A.; Dorschner M.O.; Weaver M.; Calvert S.; Malone S.; Wallace G.; Stanley T.; Bye A.M.; Bleasel A.; Howell K.B.; Kivity S.; Mackay M.T.; Rodriguez-Casero V.; Webster R.; Korczyn A.; Afawi Z.; Zelnick N.; Lerman-Sagie T.; Lev D.; Moeller R.S.; Gill D.; Andrade D.M.; Freeman J.L.; Sadleir L.G.; Shendure J.; Berkovic S.F.; Scheffer I.E.; Mefford H.C.;
Nat. Genet. 45:825-830(2013)
Cited for: VARIANTS DEE11 ILE-136; ASN-905; CYS-928 AND GLN-1882;
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
Howell K.B.; McMahon J.M.; Carvill G.L.; Tambunan D.; Mackay M.T.; Rodriguez-Casero V.; Webster R.; Clark D.; Freeman J.L.; Calvert S.; Olson H.E.; Mandelstam S.; Poduri A.; Mefford H.C.; Harvey A.S.; Scheffer I.E.;
Neurology 85:958-966(2015)
Cited for: VARIANTS DEE11 ILE-136; LYS-218; LEU-856; ASN-905; CYS-928; ARG-1593; VAL-1634 AND GLN-1882; VARIANT BFIS3 SER-240; VARIANT LYS-976;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.